Adult idiopathic neutropenia
Synonyms: Adult chronic idiopathic neutropenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult idiopathic neutropenia | Adult chronic idiopathic neutropenia |
| fr | Neutropénie idiopathique de l'adulte | Neutropénie chronique idiopathique de l'adulte |
| de | Neutropenie, adulte idiopathische | Neutropenie, adulte chronische idiopathische |
| es | Neutropenia idiopática del adulto | Neutropenia idiopática crónica del adulto |
| it | Neutropenia idiopatica dell'adulto | |
| nl | Volwassen idiopathische neutropenie | Volwassen chronische idiopathische neutropenie |
| pt | Neutropenia idiopática do adulto | |
| pl | Idiopatyczna neutropenia wieku dorosłego | = en |
| cs | Adultní idiopatické neutropenie | = en |
| uk | Ідіопатична нейтропенія у дорослих | Хронічна ідіопатична нейтропенія у дорослих |
| zh | 成人特发性中性粒细胞减少症 | 成人慢性特发性中性粒细胞减少 |
| tr | Yetişkin idiyopatik nötropeni | Erişkin kronik idiyopatik nötropeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607847 | E | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| ICD-11 | 4B00.01 | NTBT | index | validated |
| MONDO | 0011922 | E | validated | |
| UMLS | C5191335 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:178996Acquired neutropenia
rare immunological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2019-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001875 | Decreased total neutrophil count | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0005202 | Helicobacter pylori infection | |
| Frequent (79-30%) | ||
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0001888 | Lymphopenia | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0002719 | Recurrent infections | |
| Occasional (29-5%) | ||
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0001945 | Fever | |
| HP:0012139 | Granulocytic hypoplasia | |
| HP:0003496 | Increased circulating IgM level | |
| HP:0012312 | Monocytopenia | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| Very rare (<4-1%) | ||
| HP:0012311 | Increased total monocyte count | |
| HP:0002841 | Recurrent fungal infections | |
| Excluded (0%) | ||
| HP:0003453 | Antineutrophil antibody positivity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23771659[PMID]_28732781[PMID]_27841775[PMID]_26066399[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2688
- This record as JSON: /data/d/2688.json